FGD4 gene related symptoms and diseases
All the information presented here about the FGD4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to FGD4 gene
Symptoms // Phenotype | % Cases |
---|---|
Scoliosis | Very Common - Between 80% and 100% cases |
Peripheral demyelination | Very Common - Between 80% and 100% cases |
Distal lower limb muscle weakness | Very Common - Between 80% and 100% cases |
Distal lower limb amyotrophy | Very Common - Between 80% and 100% cases |
Upper limb muscle weakness | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with FGD4 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Onion bulb formation
- Decreased number of peripheral myelinated nerve fibers
- Decreased motor nerve conduction velocity
- Steppage gait
- CNS hypomyelination
- Waddling gait
- Muscle weakness
- Distal sensory impairment
And 9 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to FGD4 gene
Here you will find a list of rare diseases related to the FGD4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CHARCOT-MARIE-TOOTH DISEASE TYPE 4H
Alternate names
CHARCOT-MARIE-TOOTH DISEASE TYPE 4H Is also known as cmt4h, charcot-marie-tooth disease, autosomal recessive, type 4h, charcot-marie-tooth disease, demyelinating, autosomal recessive, type 4h, charcot-marie-tooth neuropathy, type 4h
Description
Charcot-Marie-Tooth disease type 4H is a subtype of Charcot-Marie-Tooth disease type 4 characterized by onset before two years of age of severe, slowly progressive, demyelinating sensorimotor neuropathy manifesting with delayed motor development (walking), unsteady gait, distal muscle weakness and atrophy (more prominent in the lower limbs), areflexia, mild symmetrical stocking-distribution hypoesthesia, and skeletal malformations (incl. kyphoscoliosis, short neck, pes cavus and pes equinus). Severely reduced nerve conduction velocities are associated.
Most common symptoms of CHARCOT-MARIE-TOOTH DISEASE TYPE 4H
- Scoliosis
- Muscle weakness
- Motor delay
- Peripheral neuropathy
- Talipes equinovarus
More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 4H
Search interest in FGD4
Potential gene panels for FGD4 gene
CMT Advanced Evaluation - Recessive, Demyelinating Panel
By Athena Diagnostics Inc CMT Advanced Evaluation - Recessive, Demyelinating that also includes the following genes: PRX GDAP1 FIG4 FGD4 SBF2 SH3TC2 MTMR2 NDRG1
More info about this panelCMT Advanced Evaluation - Comprehensive Panel
By Athena Diagnostics Inc CMT Advanced Evaluation - Comprehensive that also includes the following genes: YARS PRX GDAP1 LITAF FIG4 MFN2 TRPV4 FGD4 SBF2 SH3TC2
More info about this panelFGD4 DNA Sequencing Test Panel
By Athena Diagnostics Inc
This panel specifically test the FGD4 gene.
More info about this panelCMT Advanced Evaluation - Demyelinating Panel
By Athena Diagnostics Inc CMT Advanced Evaluation - Demyelinating that also includes the following genes: YARS PRX GDAP1 LITAF FIG4 FGD4 SBF2 SH3TC2 DNM2 EGR2
More info about this panelCMT Advanced Evaluation - Recessive Panel
By Athena Diagnostics Inc CMT Advanced Evaluation - Recessive that also includes the following genes: PRX GDAP1 FIG4 FGD4 SBF2 SH3TC2 LMNA MTMR2 NDRG1
More info about this panelCMT Advanced Evaluation - Nonprevalent Panel
By Athena Diagnostics Inc CMT Advanced Evaluation - Nonprevalent that also includes the following genes: YARS PRX GDAP1 LITAF FIG4 TRPV4 FGD4 SBF2 SH3TC2 DNM2
More info about this panelCMT Advanced Evaluation - Nonprevalent Demyelinating Panel
By Athena Diagnostics Inc CMT Advanced Evaluation - Nonprevalent Demyelinating that also includes the following genes: YARS PRX GDAP1 LITAF FIG4 FGD4 SBF2 SH3TC2 DNM2 EGR2
More info about this panelCharcot-Marie-Tooth Hereditary Neuropathy Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Charcot-Marie-Tooth Hereditary Neuropathy Panel that also includes the following genes: SBF1 SLC12A6 SPG11 SURF1 TFG VCP YARS PRX BSCL2 GDAP1
More info about this panelCharcot-Marie-Tooth Syndrome Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Charcot-Marie-Tooth Syndrome that also includes the following genes: SPTLC1 YARS PRX BSCL2 GDAP1 KIF1B LITAF FIG4 MFN2 TRPV4
More info about this panelCharcot Marie Tooth Panel Panel
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Charcot Marie Tooth Panel that also includes the following genes: SPTLC1 TTR PRX GDAP1 KIF1B LITAF FIG4 MFN2 TRPV4 FGD4
More info about this panelCharcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel Panel
By ARUP Laboratories, Molecular Genetics and Genomics Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel that also includes the following genes: SBF1 SCN9A SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2 TFG YARS PRX
More info about this panelCharcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing Panel
By ARUP Laboratories, Molecular Genetics and Genomics Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing that also includes the following genes: SBF1 SCN9A SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2 TFG YARS PRX
More info about this panelCharcot-Marie-Tooth Panel
By Human Genetics University Hospital Bern Charcot-Marie-Tooth that also includes the following genes: YARS PRX BSCL2 GDAP1 LITAF FIG4 FGD4 SBF2 CTDP1 SH3TC2
More info about this panelCharcot-Marie-Tooth disease type 4H (CMT4H, sequence analysis of FGD4 gene) Panel
By CGC Genetics
This panel specifically test the FGD4 gene.
More info about this panelHereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes) Panel
By CGC Genetics Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes) that also includes the following genes: SBF1 SCN11A SCN9A DST SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2 TWNK
More info about this panelCharcot-Marie-Tooth disease (NGS panel for 43 genes) Panel
By CGC Genetics Charcot-Marie-Tooth disease (NGS panel for 43 genes) that also includes the following genes: SBF1 YARS PRX GDAP1 TRIM2 KIF1B LITAF FIG4 MFN2 TRPV4
More info about this panelCharcot-Marie-Tooth disease type 4H (CMT4H, deletion/duplication analysis of FGD4 gene) Panel
By CGC Genetics
This panel specifically test the FGD4 gene.
More info about this panelCharcot-Marie-Tooth disease type 4H (CMT4H, deletion/duplication analysis of FGD4 gene) Panel
By CGC Genetics
This panel specifically test the FGD4 gene.
More info about this panelCharcot Marie Tooth - Demyelinating Neuropathy Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Charcot Marie Tooth - Demyelinating Neuropathy Sequencing Panel with CNV Detection that also includes the following genes: SBF1 YARS PRX GDAP1 LITAF FIG4 FGD4 GNB4 SBF2 COX6A1
More info about this panelCharcot Marie Tooth - Comprehensive Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Charcot Marie Tooth - Comprehensive Sequencing Panel with CNV Detection that also includes the following genes: SBF1 YARS PRX GDAP1 TRIM2 LITAF FIG4 MFN2 TRPV4 FGD4
More info about this panelCharcot Marie Tooth - Axonal Neuropathy Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Charcot Marie Tooth - Axonal Neuropathy Sequencing Panel with CNV Detection that also includes the following genes: SBF1 PRX GDAP1 TRIM2 FIG4 MFN2 TRPV4 FGD4 AARS GNB4
More info about this panelComprehensive Neuropathy Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Comprehensive Neuropathy Sequencing Panel with CNV Detection that also includes the following genes: SBF1 SCN9A SLC12A6 ATL1 SPTLC1 SPTLC2 TFG TTR YARS PRX
More info about this panelAtrial fibrillation Deletion / Duplication test Panel
By Connective Tissue Gene Tests Atrial fibrillation Deletion / Duplication test that also includes the following genes: BSCL2 GDAP1 FIG4 FGD4 AARS GNB4 COX6A1 DHTKD1 C12orf65 DYNC1H1
More info about this panelAtrial fibrillation Comprehensive test Panel
By Connective Tissue Gene Tests Atrial fibrillation Comprehensive test that also includes the following genes: BSCL2 GDAP1 FIG4 FGD4 AARS GNB4 COX6A1 DHTKD1 C12orf65 DYNC1H1
More info about this panelAtrial fibrillation NGS test Panel
By Connective Tissue Gene Tests Atrial fibrillation NGS test that also includes the following genes: BSCL2 GDAP1 FIG4 FGD4 AARS GNB4 COX6A1 DHTKD1 C12orf65 DYNC1H1
More info about this panelCharcot-Marie-Tooth disease Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Charcot-Marie-Tooth disease Deletion / Duplication panel that also includes the following genes: SBF1 TFG YARS PRX BSCL2 GDAP1 TRIM2 KIF1B LITAF FIG4
More info about this panelCharcot-Marie-Tooth disease NGS panel Panel
By Connective Tissue Gene Tests Charcot-Marie-Tooth disease NGS panel that also includes the following genes: SBF1 TFG YARS PRX BSCL2 GDAP1 TRIM2 KIF1B LITAF FIG4
More info about this panelCharcot-Marie-Tooth disease Comprehensive panel Panel
By Connective Tissue Gene Tests Charcot-Marie-Tooth disease Comprehensive panel that also includes the following genes: SBF1 TFG YARS PRX BSCL2 GDAP1 TRIM2 KIF1B LITAF FIG4
More info about this panelNeuropathy Panel
By MGZ Medical Genetics Center Neuropathy that also includes the following genes: SACS SCN10A SCN11A SCN9A SH3BP4 SLC12A6 SOD1 SPG11 ATL1 SPAST
More info about this panelCharcot-Marie-Tooth Neuropathy Type 4H Panel
By MGZ Medical Genetics Center
This panel specifically test the FGD4 gene.
More info about this panelCharcot Marie Tooth Type 4 Panel Panel
By FirmaLab Charcot Marie Tooth Type 4 Panel that also includes the following genes: PRX GDAP1 FIG4 FGD4 SBF2 SH3TC2 EGR2 MTMR2 NDRG1
More info about this panelCMT4H Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the FGD4 gene.
More info about this panelAllNeuro panel Panel
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panelCharcot-Marie-Tooth and Sensory Neuropathies Panel Panel
By CeGaT GmbH Charcot-Marie-Tooth and Sensory Neuropathies Panel that also includes the following genes: SBF1 SCN10A SCN11A SCN9A DST SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2
More info about this panelFGD4 - Gene sequencing Panel
By Clinical Genetics Academic Medical Center
This panel specifically test the FGD4 gene.
More info about this panelCharcot-Marie-Tooth Disease Panel
By Asper Biogene Asper Biogene LLC Charcot-Marie-Tooth Disease that also includes the following genes: SBF1 SCN9A SPTLC1 SPTLC2 SURF1 TFG VCP YARS PRX SLC5A7
More info about this panelInvitae Comprehensive Neuropathies Panel Panel
By Invitae Invitae Comprehensive Neuropathies Panel that also includes the following genes: SCN11A SCN9A DST SPG11 ATL1 SPTLC1 SPTLC2 TFG TTR UBA1
More info about this panelInvitae Charcot-Marie-Tooth Disease Comprehensive Panel Panel
By Invitae Invitae Charcot-Marie-Tooth Disease Comprehensive Panel that also includes the following genes: SPG11 TFG YARS PRX BSCL2 GDAP1 TRIM2 LITAF FIG4 MFN2
More info about this panelInvitae Charcot-Marie-Tooth Disease Autosomal Recessive Panel Panel
By Invitae Invitae Charcot-Marie-Tooth Disease Autosomal Recessive Panel that also includes the following genes: SPG11 PRX GDAP1 TRIM2 FIG4 MFN2 FGD4 SBF2 LRSAM1 MED25
More info about this panelCHARCOT- MARIE TOOTH Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases CHARCOT- MARIE TOOTH that also includes the following genes: YARS PRX BSCL2 GDAP1 KIF1B LITAF FIG4 MFN2 TRPV4 FGD4
More info about this panelHereditary Neuropathies: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Sequencing Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1
More info about this panelHereditary Neuropathies: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Deletion/Duplication Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1
More info about this panelHereditary Neuropathies NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Hereditary Neuropathies NGS Panel that also includes the following genes: SCN9A ATL1 SPTLC2 TTR YARS PRX GDAP1 KIF1B LITAF MFN2
More info about this panelCharcot Marie Tooth Disease Extended NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Charcot Marie Tooth Disease Extended NGS Panel that also includes the following genes: SCN9A SLC12A6 ATL1 SPTLC1 SPTLC2 TTR PRX WNK1 BSCL2 GDAP1
More info about this panelFGD4 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the FGD4 gene.
More info about this panelCharcot-Marie-Tooth Neuropathy Panel Panel
By Blueprint Genetics Charcot-Marie-Tooth Neuropathy Panel that also includes the following genes: SACS SBF1 SCN11A SCN9A DST SLC12A6 SPG11 ATL1 SPTLC1 SPTLC2
More info about this panelCHARCOT-MARIE-TOOTH DISEASE TYPE 4H Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the FGD4 gene.
More info about this panelCHARCOT-MARIE-TOOTH : NGS PANEL Panel
By Laboratorio de Genetica Clinica SL CHARCOT-MARIE-TOOTH : NGS PANEL that also includes the following genes: YARS PRX BSCL2 GDAP1 KIF1B LITAF FIG4 MFN2 TRPV4 FGD4
More info about this panelCharcot-Marie-Tooth neuropathy demyelinating panel Panel
By LifeLabs Genetics Charcot-Marie-Tooth neuropathy demyelinating panel that also includes the following genes: PRX LITAF FIG4 FGD4 SBF2 CTDP1 SH3TC2 EGR2 GJB1 MPZ
More info about this panelHereditary Peripheral Neuropathy , Panel Massive Sequencing (NGS) 31 Genes Panel
By Reference Laboratory Genetics Hereditary Peripheral Neuropathy , Panel Massive Sequencing (NGS) 31 Genes that also includes the following genes: SLC12A6 YARS PRX GDAP1 KIF1B LITAF FIG4 MFN2 TRPV4 FGD4
More info about this panelCharcot-Marie-Tooth Disease, Panel Massive Sequencing (NGS) 32 Genes Panel
By Reference Laboratory Genetics Charcot-Marie-Tooth Disease, Panel Massive Sequencing (NGS) 32 Genes that also includes the following genes: YARS PRX BSCL2 GDAP1 KIF1B LITAF FIG4 MFN2 TRPV4 FGD4
More info about this panelMotor Neuron Disorder and Related Diseases , Panel Massive Sequencing (NGS) 49 Genes Panel
By Reference Laboratory Genetics Motor Neuron Disorder and Related Diseases , Panel Massive Sequencing (NGS) 49 Genes that also includes the following genes: SMN1 SMN2 UBA1 VCP YARS PRX BSCL2 GDAP1 SLC52A3 KIF1B
More info about this panelCharcot-Marie-Tooth Disease Type 4 , Panel Massive Sequencing (NGS) 11 Genes Panel
By Reference Laboratory Genetics Charcot-Marie-Tooth Disease Type 4 , Panel Massive Sequencing (NGS) 11 Genes that also includes the following genes: SURF1 PRX GDAP1 FIG4 FGD4 SBF2 SH3TC2 EGR2 HK1 MTMR2
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